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Search: authors:"Mara Giordano"

7 papers found.
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A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency

Background Rearrangements involving the short arm of chromosome 18 have been extensively described. Here we report a microduplication of 320.5–431.5 Kb at 18p11.31-p11.23 in a 10 year-old boy. Case presentation In a 10 year-old boy with moderate psychomotor delay, hypoplasia of the cerebellar vermis, chorioretinal coloboma, deafness and growth hormone deficiency (GHD), an...

Invasive meningococcal disease in three siblings with hereditary deficiency of the 8 th component of complement: evidence for the importance of an early diagnosis

-polyacrylamide gel electrophoresis; ELISA: Enzyme-linked immunosorbent assay. Competing interest Rosa Maria Dellepiane, Laura Dell’Era, Paola Pavesi, Paolo Macor, Mara Giordano, Luca De Maso, Maria Cristina

Effects of Growth Hormone (GH) Therapy Withdrawal on Glucose Metabolism in Not Confirmed GH Deficient Adolescents at Final Height

Context, objective Growth hormone deficiency (GHD) is associated with insulin resistance and diabetes, in particular after treatment in children and adults with pre-existing metabolic risk factors. Our aims were. i) to evaluate the effect on glucose metabolism of rhGH treatment and withdrawal in not confirmed GHD adolescents at the achievement of adult height; ii) to investigate...

Genetic Variants Associated with Increased Risk of Malignant Pleural Mesothelioma: A Genome-Wide Association Study

Gemma Cadby Cornelia Di Gaetano Fabio Rosa Alessia Russo Ari Hirvonen Elisabetta Casalone Sara Tunesi Marina Padoan Mara Giordano Anna Aspesi Caterina Casadio Francesco Ardissone Enrico Ruffini Pier

Immunoproteasome LMP2 60HH Variant Alters MBP Epitope Generation and Reduces the Risk to Develop Multiple Sclerosis in Italian Female Population

Background Albeit several studies pointed out the pivotal role that CD4+T cells have in Multiple Sclerosis, the CD8+ T cells involvement in the pathology is still in its early phases of investigation. Proteasome degradation is the key step in the production of MHC class I-restricted epitopes and therefore its activity could be an important element in the activation and regulation...

IL12B Polymorphism and Type 1 Diabetes in the Italian Population: A Case-Control Study

A polymorphism in the interleukin 12B gene was recently reported to be strongly associated with type 1 diabetes in 422 Australian and British families. We analyzed the same polymorphism in 470 Italian type 1 diabetic patients and 544 matched control subjects and found no evidence of association with the disease.